Cost-Effectiveness Methods and Newborn Screening Assessment

Castilla-Rodríguez, Iván; Vallejo-Torres, Laura; Couce, María L.; Valcárcel-Nazco, Cristina; Mar, Javier; Serrano‐Aguilar, Pedro

doi:10.1007/978-3-319-67144-4_16

Cited by 5 publications

(5 citation statements)

References 36 publications

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“…Therefore, we started the screening in 2015, and currently our false positive rate with a cut-off of 35% of normal mean was lower than 0.03%. There are several economic evaluation methods that can be applied to newborn screening programs [31]. Vallejo-Torres et al found that newborn screening for biotinidase deficiency led to higher quality quality-adjusted life years, and the probability that biotinidase deficiency screening was cost-effective was estimated to be > 70% [32].…”

Section: Discussionmentioning

confidence: 99%

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Hsu

Chien

Hwu

et al. 2019

Orphanet J Rare Dis

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Biotinidase deficiency is an autosomal recessive disorder that affects the endogenous recycling and release of biotin from dietary protein. This disease was thought to be rare in East Asia. In this report, we delineate the phenotype of biotinidase deficiency in our cohort. The genotypes and phenotypes of patients diagnosed with biotinidase deficiency from a medical center were reviewed. The clinical manifestations, laboratory findings, and molecular test results were retrospectively analyzed. A total of 6 patients were evaluated. Three patients (50%) were diagnosed because of a clinical illness, and the other three (50%) were identified by newborn screening. In all patients, the molecular results confirmed the BTD mutation. The three patients with clinical manifestations had an onset of seizure at the age of 2 to 3 months. Two patients had respiratory problems (one with apnea under bilevel positive airway pressure (BiPAP) therapy at night, and the other with laryngomalacia). Hearing loss and eye problems were found in one patient. Interestingly, cutaneous manifestations including skin eczema, alopecia, and recurrent fungal infection were less commonly seen compared to cases in the literature. None of the patients identified by the newborn screening program developed symptoms. Our findings highlight differences in the genotype and phenotype compared with those in Western countries. Patients with biotinidase deficiency benefit from newborn screening programs for early detection and management.

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Section: Discussionmentioning

confidence: 99%

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Hsu

Chien

Hwu

et al. 2019

Orphanet J Rare Dis

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“…Despite the wide international consensus on the efficiency of NBS for phenylketonuria in terms of costs and effectiveness, this consensus is challenged as new disorders are proposed to be included in a NBS program (93). NBS programs might be relatively inexpensive, even when the confirmatory diagnostic tests for both the true and false positives and the follow-up and treatment costs of affected children are included.…”

Section: Newborn Screeningmentioning

confidence: 99%

“…Reorganization, grouping, and renaming of registries is common. Other 33 , (76-84) 34,35,36,37,38,39,40,41,42,43,44,45,46,47 , (67, 85, 86) 1,48 , (87) 2,3 , (88, 89) 4,5 , (90, 91) 6,7,8,9 , (92,93).…”

Section: Disease Registries National Plans For Rare Diseasesmentioning

confidence: 99%

A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries

Czech¹,

Baran-Kooiker

Atikeler

et al. 2020

Front. Public Health

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“…Many of these had clear benefits from screening, as early diagnosis before the onset of symptoms enabled therapeutic intervention, improving health outcomes for infants [10]. However, some of these conditions are opportunistically screened, and perhaps would not be possible to justify a specific screening program based on health economic impact [14].…”

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confidence: 99%

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

Mordaunt

Cox

Fuller

2020

IJMS

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Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy. Newborn screening programs successfully capture a proportion of patients enabling early recognition and prompt initiation of therapy. For others, the heterogeneity in clinical presentation often confuses diagnosis with more common conditions. In the absence of family history and following clinical suspicion, the laboratory diagnosis typically begins with broad screening tests to circumscribe specialised metabolite and/or enzyme assays to identify the specific IEM. Confirmation of the biochemical diagnosis is usually achieved by identifying pathogenic genetic variants that will also enable cascade testing for family members. Unsurprisingly, this diagnostic trajectory is too often a protracted and lengthy process resulting in delays in diagnosis and, importantly, therapeutic intervention for these rare conditions is also postponed. Implementation of mass spectrometry technologies coupled with the expanding field of metabolomics is changing the landscape of diagnosing IEM as numerous metabolites, as well as enzymes, can now be measured collectively on a single mass spectrometry-based platform. As the biochemical consequences of impaired metabolism continue to be elucidated, the measurement of secondary metabolites common across groups of IEM will facilitate algorithms to further increase the efficiency of diagnosis.

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Cost-Effectiveness Methods and Newborn Screening Assessment

Cited by 5 publications

References 36 publications

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

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